An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.

Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding the prevalence of liver disease and the occurrence of liver symptoms in CDG patients. The network of patient advocacy groups, families and professionals (CDG & Allies - PPAIN) developed the LeQCDG by adapting validated published questionnaires. The LeQCDG was approved by an ethics committee, and the recruitment of patients and caregivers proceeded through social media platforms. Participants were asked to report past or present liver-related symptoms (e.g. hepatomegaly, liver fibrosis and cirrhosis) and laboratory results (e.g. biochemical and/or radiological). From 11 December 2016 to 22 January 2017, 155 questionnaires were completed. Liver disease was present in 29.9% of CDG patients. Main symptoms reported included hepatomegaly, increased levels of serum transaminases, fibrosis, steatosis and cirrhosis. The data obtained in this online survey confirm findings from a recent literature review of 25 years of published evidence (r = 0.927, P = 0.02). Our questionnaire collected large amounts of meaningful, clinical and patient-oriented data in a short period of time without geographic limitations. Internet-based approaches are especially relevant in the context of ultra-rare diseases such as CDG.

Seeking, accepting and declining help for emotional distress in cancer: A systematic review and thematic synthesis of qualitative evidence.

Many individuals affected by cancer who experience emotional distress report not wanting help. This review aims to understand why individuals affected by cancer seek, accept or decline help for emotional distress and what influences these actions. A systematic review and thematic synthesis of the qualitative literature was conducted. Using pre-defined search terms, four electronic databases were searched from January 2000 to May 2016. Pre-determined inclusion and exclusion criteria were then applied. Identified papers were quality appraised. In total, 32 papers were included in the synthesis. Four themes emerged from data synthesis: attaining normality-the normality paradox; being emotionally literate; perceptions of help; needs-support gap. Attaining normality is ideographic, context dependent and temporally situated; some individuals maintain normality by not seeking/declining help whereas others seek/accept help to achieve a new normality. Thus, attaining normality paradoxically functions to explain both why individuals sought/accepted help or did not seek/declined help. Data indicate that a context dependent, systems thinking approach is merited to enhance psychosocial care. In particular, clinicians must actively explore the personal context of an individual's distress to ensure that help desired and help offered are mutually understood. Further research must address the limitations of the current evidence base to advance theoretical understanding.

Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families.

AIM: The aim was to describe the nature, frequency, severity and management challenges of symptoms in children with two rare life-limiting conditions [Mucopolysaccharide (MPS) and Batten disease]. METHODS: This was an embedded mixed-method study set in the UK between 2009 and 2011. Twenty-six children from 23 families took part. Seventeen children had an MPS condition [MPS III (Sanfilippo) n = 15; MPS I (Hurler) n = 1; MPS IVA (Morquio); n = 1]. Nine children had Batten disease. Prospective data relating to symptoms were collected over 8 weeks using a symptom diary, and qualitative retrospective interviews with families were conducted. Main outcome measures included frequency, severity rating and identification of most challenging symptoms to manage. RESULTS: The most common and severe symptoms in MPS III were agitation, repetitive behaviours, hyperactivity and disturbed sleep, and in Batten disease were agitation, joint stiffness, secretions, and disturbed sleep. The data highlighted the high prevalence of behavioural symptoms. Distress caused to families by symptoms was not related simply to their occurrence, but to difficulty in management, likelihood of control and extent to which they signalled disease progression and decline. CONCLUSION: In challenging contrast to the dominant biomedical framing of these rare conditions it was behavioural symptoms, rather than the physical ones, that families documented as most frequent, severe and challenging to manage. The diary developed for this study has potential use in aiding parents and clinicians to document and communicate concerns about symptoms.

Recognition by family members that relatives with neurodegenerative disease are likely to die within a year: a meta-ethnography.

OBJECTIVE: To synthesize evidence of family members recognizing that their relative is likely to die within the year, and identifying the need for palliative care. DESIGN: A meta-ethnography of studies of family members in multiple sclerosis (MS), Parkinson's disease (PD) and motor neuron disease (MND). REVIEW METHODS: Systematic search in electronic databases; thematic synthesis guided by the principles of meta-ethnography, which is a method for thematic synthesis of qualitative studies. RESULTS: Nine articles were included. The results of the synthesis identified two key themes. First, family members are intimately aware of changes in their relative's health and well-being. Sub-themes include family member awareness of different and progressive stages of the disease, noticing deterioration, noticing decline in functional abilities and recognizing that their relative will die. The second key theme is dilemmas of being involved in prognostication. Sub-themes include family member ambivalence toward hearing about prognostication, health professionals not being knowledgeable of the disease and family reluctance to receive palliative care. CONCLUSIONS: Family members monitor and recognize changes in their relative with PD, MND and MS and in themselves. Thus, drawing on the expertise of family members may be a useful tool for prognostication.

The supportive care needs of carers of people affected by cancer stationed in British Forces Germany.

Carers are central to the effective support of people affected by cancer. Little is known however about the specific support needs of carers of military personnel. This study aimed to determine the supportive care needs of unpaid carers within British Forces (including military/civilian personnel, their families and dependent adults) currently stationed in Germany. Qualitative semi-structured interviews were conducted with seven carers (six men and one woman) in three British army garrisons across Germany, to identify core aspects of the experience of caregiving in this environment. Analysis of interviews with carers was based on qualitative thematic and content analysis. Three key themes were identified: (1) impact on carers of their partners being diagnosed with cancer; (2) provision of support; and (3) challenges to accessing and obtaining support. Central issues pivot around the context of working and living in the armed forces and a lack of supportive care infrastructure. While drawing on a small sample size, this study nonetheless identifies that carers of people with cancer within the armed forces, who are stationed in Germany require a specialised and contextually specific set of services to address their supportive care needs.

Adults with intellectual disabilities affected by cancer: critical challenges for the involvement agenda.

Cancer incidence and prevalence in people with intellectual disabilities are poorly documented. Changing demographic patterns, however, mirror those in the general population with increased longevity leading to higher numbers of people developing cancer in the future. Little is known about the service and support needs of this group, but there is a precedent to understand their experiences to inform research and service development if appropriately tailored approaches are to be adopted. This article outlines a project that sought to develop an advisory forum of adults with intellectual disabilities affected by cancer, to inform the development of a research agenda. The process of this work is described alongside a critical appraisal of the tensions in involving people with intellectual disabilities as advisors on cancer research and practice. We discuss and challenge the underlying ideologies, which lie in the path of fully engaging with marginalized patients.

Prioritization of future research topics for children's hospice care by its key stakeholders: a Delphi study.

The Delphi process, widely used in health research to seek consensus on key issues amongst large stakeholder groups, was adopted to allow families, hospice staff/volunteers and linked professionals to identify and prioritize future research priorities for children's hospice care. In the qualitative Round 1, interviews with families (n = 5), linked professionals (n = 18) and focus groups with hospice staff and volunteers (n = 44) led to the generation of 56 research topics categorised within 14 broad themes. To give a larger number of stakeholders (n = 621) (including families n = 293; hospice staff/volunteers n = 216 and professionals n = 112) the opportunity to rate the importance of each research topic and seek group consensus on the future research priorities for children's hospice care, subsequent Rounds 2 and 3 involved the use of postal questionnaires. Response rates to questionnaires were 44% in Round 2 (274/621) and 83% in Round 3 (204/247). Participants prioritized research topics relating to 1) hospice and respite care needs of young people (aged 16 +), 2) pain and symptom management and 3) bereavement and end-of-life care. There was wide acknowledgement by those took part in the process of the difficulty in rating the topics, and emphasis on the fact that all of the topics raised during the project are of high importance and merit further research. The current salient issues perceived by key stakeholders as being the research priorities for children's hospice care were identified. Addressing these priority topics for research would further contribute to the development of a much needed evidence base in children's hospice and palliative care research and optimise the delivery of children's hospice services that are underpinned by valid and robust research.

'Quite an awkward situation to be in': perceptions of patients, carers and health and social care professionals of the supportive cancer care in British military personnel stationed in Germany.

GOALS OF WORK: This paper reports findings from a study which identified the nature and volume of supportive care received by British military services personnel and their dependents who experience cancer and are based in Germany. The objectives were to (1) identify any gaps in the provision of supportive care, (2) determine the potential for additional supportive care services (local or remote), and (3) identify any educational or development issues for DMWS personnel. MATERIALS AND METHODS: Interviews and focus groups were conducted with people with cancer (n = 7), informal carers (n = 6), British health care professionals employed by British Forces in Germany (n = 8), German health care professionals (n = 3), senior military personnel (n = 6) and army support personnel (n = 5). Analysis of the data was thematic and focused on accounts of care related to core issue identified in the UK's National Institute of Health and Clinical Excellence (NICE) guidelines (24). MAIN RESULTS: The paper explores the difficulties which British military personnel experience in their cancer care. The shortfalls in best practice are discussed in the framework of NICE guidelines focusing on communication, information, psychosocial care and coordination of care/inter-agency working. Significant gaps in the supportive care service provision are apparent CONCLUSIONS: The limited assessment and discussion of patients' supportive care needs suggests key areas for service improvement for providers both within the British Military in Germany, and in the services provided by German organisations. These findings highlight issues that should be considered by those providing supportive care for marginalised patient groups, such as patients and carers from different cultures.

Exploring the experiences and perspectives of families using a children's hospice and professionals providing hospice care to identify future research priorities for children's hospice care.

The main objective of this study is to generate a list of priority topics for children's hospice care research in Scotland from the perspective of its key stakeholders. The method consists of qualitative semi-structured interviews with families using hospice services (n = 5), four focus groups with hospice staff and volunteers (n = 44) and telephone interviews with professionals associated with the hospice (n = 18). Fourteen broad themes emerged following thematic content and interpretive analysis of the interview data. Some of the research themes were specific to certain stakeholder groups, whereas other themes were identified unanimously across all the stakeholder groups as being priority areas for future research. Increasing awareness of and improving access to children's hospice care, hospice and respite care needs of young people, community/home care and issues related to supporting the wider family arose, independently, in all three stakeholder groups as being priority topics for future research. In conclusion, a greater evidence base is required in the field of children's palliative care and the topics researched should be identified and led by those most closely involved in the hospices. Engaging families and care providers in the process of identifying research priorities resulted in the development of an extensive research agenda, which will contribute to quality hospice care for children and families.

Methotrexate-induced pericarditis and pericardial effusion; first reported case.

We report a case of methotrexate-induced pericarditis and pericardial effusion in a 22-year-old pregnant woman. These complications have not previously been described as isolated phenomena associated with methotrexate therapy.

Monitoring anticoagulation following intracoronary procedures: which method?

We have assessed bedside kits for monitoring the activated partial thromboplastin time and the activated clotting time by comparing them with laboratory activated partial thromboplastin time values. To determine the accuracy of anticoagulation we have concurrently measured the plasma heparin concentrations, and plasma prothrombin fragment F1 + 2 concentrations. Serial samples were taken from patients undergoing elective percutaneous transluminal coronary angioplasty (n = 14). Readings were taken pre-procedure, 30 min after administration of a heparin bolus (10,000 U) and 1, 2 and 3 h after commencement of a constant heparin infusion (15 U/kg/h) postprocedure. Activated partial thromboplastin time results obtained with the bedside kit compared reliably with laboratory values (r = 0.8), were rapidly available and were reflected by appropriate changes in prothrombin fragment F1 + 2 and heparin concentrations. However, the relationship between activated partial thromboplastin time values and activated clotting time was less precise (r = 0.59). Therefore, for routine and frequent monitoring of anticoagulation with heparin, a bedside activated partial thromboplastin time kit provides adequate control of therapy but in instances were particularly tight control of anticoagulation is required, use of prothrombin fragment F1 + 2 concentrations may be more appropriate.

Plaque herniation through an intracoronary stent.

We present a case where a Wiktor intracoronary stent was inserted for 'poor angiographic result' following balloon angioplasty. Despite appropriate positioning and repeated dilation of the stent a suboptimal result was achieved because of plaque herniation through the stent. The case emphasizes that the choice of stent used is important and will become more so as the number of choices available increases.

Failure of provision of antibiotic prophylaxis for 'at risk' cardiac patients: impetus for improvement required from cardiologists.

We conducted a survey by questionnaire to assess whether patients 'at risk' from infective endocarditis are aware of the need for good dental hygiene and antibiotic prophylaxis, and receive appropriate advice or treatment. Of 189 patients surveyed, half had told a dentist about their heart, 8% were aware of a dental problem, 12% had attended a dentist within one year, but 39% had not attended a dentist in 5 years. Only 21% accurately recalled instructions on prophylaxis and 44% recalled receiving antibiotics prior to treatment. Of replies from 262/480 general practitioners, half took a dental history but only 3% gave antibiotic advice in writing. Fifty-seven percent prescribed antibiotics recommended by the British Society for Antimicrobial Chemotherapy. Of the general practitioners and 72/240 dentists who replied, half were unaware of some of the cardiac conditions requiring prophylaxis, and did not receive adequate advice from their cardiac centre. We conclude most at-risk patients are unaware of the need for good dental hygiene and antibiotic prophylaxis. Communication needs to be improved to address these problems. A new 'endocarditis risk' card is proposed for patients to carry, with an identical 'sticker' to attach to medical notes.

Glucose concentrations in parotid fluid and venous blood of patients attending a diabetic clinic.

Measurements of the glucose concentration in venous blood and parotid saliva taken from 31 diabetics attending a diabetic clinic showed values ranging respectively from 3.9 to 19.1 mmol/l and 0.06 to 0.83 mmol/l (means 9.6 mmol/l and 0.32 mmol/l respectively). Linear regression of salivary glucose on blood glucose gave a simple correlation coefficient of 0.18 (NS). Since salivary glucose levels did not reflect blood glucose levels, the possibility of diabetics regulating their metabolic control by the noninvasive technique of monitoring salivary glucose concentrations is not possible.

The relationships between maternal HbA1, maternal size and fetoplacental size in Indian pregnancies.

A study of pregnant Punjabi, Indian women was carried out to establish whether or not there was a relationship between maternal HbA1 at term and birth weight of the baby. Measurements were made on the mother, placenta and baby. The regression of birth weight on placenta weight gave a correlation (r = 0.7, P less than 0.01, n = 59). No correlation was found between HbA1 and birth weight, birth weight corrected for placenta weight, or placenta weight. However, there was a weak but significant correlation between HbA1 and an adjusted placenta weight, expressed as a ratio Bwt'/Plwt', (r = 0.27, P less than 0.05, n = 56).

Cervical and vestibular afferent control of oculomotor response in man.

Oculomotor response in the absence of vision has been compared in a group of 12 normal humans in two experimental conditions testing (a) the vestibulocular reflex by whole-body oscillation on a turntable, and (b) the cervico-ocular reflex by oscillation of the body with the head held stationary. The stimulus was a sinusoidal oscillation (peak angular velocity +/- 50 degrees/sec) at frequencies between 0.2 and 1.3 Hz. The slow-phase eye movements of the vestibulo-ocular response were compensatory for head movement and showed a mean gain of 0.54--0.90, increasing with frequency. The cervicoocular response was found to be very variable. The slow-phase eye movements were of low velocity (mean gain 0.05) and did not generally compensate for body movement. During neck torsion, some subjects exhibited large overall eye deviations composed of both slow and fast phase eye movements.